ClinVar

NM_016559.3(PEX5L):c.608C>A (p.Thr203Asn)

Gene:

PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

• Chr3: 179875375 (on Assembly GRCh38)
• Chr3: 179593163 (on Assembly GRCh37)

Preferred name:

NM_016559.3(PEX5L):c.608C>A (p.Thr203Asn)

HGVS:

• NC_000003.12:g.179875375G>T
• NM_001256750.2:c.602C>A
• NM_001256751.2:c.536C>A
• NM_001256752.2:c.503C>A
• NM_001256753.2:c.431C>A
• NM_001256754.2:c.479C>A
• NM_001256755.2:c.284C>A
• NM_001256756.2:c.32C>A
• NM_001349386.2:c.773C>A
• NM_001349387.2:c.680C>A
• NM_001349388.2:c.680C>A
• NM_001349389.2:c.674C>A
• NM_001349390.2:c.668C>A
• NM_001349391.2:c.578C>A
• NM_001349392.2:c.575C>A
• NM_001349393.2:c.575C>A
• NM_001349394.2:c.485C>A
• NM_001349395.2:c.479C>A
• NM_001349396.2:c.407C>A
• NM_001349397.2:c.380C>A
• NM_001349398.2:c.341C>A
• NM_001349399.2:c.32C>A
• NM_001349401.2:c.32C>A
• NM_001349404.2:c.32C>A
• NM_001349406.2:c.32C>A
• NM_001349408.2:c.32C>A
• NM_001349409.2:c.32C>A
• NM_001349410.2:c.32C>A
• NM_016559.3:c.608C>AMANE SELECT
• NP_001243679.1:p.Thr201Asn
• NP_001243680.1:p.Thr179Asn
• NP_001243681.1:p.Thr168Asn
• NP_001243682.1:p.Thr144Asn
• NP_001243683.1:p.Thr160Asn
• NP_001243684.1:p.Thr95Asn
• NP_001243685.1:p.Thr11Asn
• NP_001336315.1:p.Thr258Asn
• NP_001336316.1:p.Thr227Asn
• NP_001336317.1:p.Thr227Asn
• NP_001336318.1:p.Thr225Asn
• NP_001336319.1:p.Thr223Asn
• NP_001336320.1:p.Thr193Asn
• NP_001336321.1:p.Thr192Asn
• NP_001336322.1:p.Thr192Asn
• NP_001336323.1:p.Thr162Asn
• NP_001336324.1:p.Thr160Asn
• NP_001336325.1:p.Thr136Asn
• NP_001336326.1:p.Thr127Asn
• NP_001336327.1:p.Thr114Asn
• NP_001336328.1:p.Thr11Asn
• NP_001336330.1:p.Thr11Asn
• NP_001336333.1:p.Thr11Asn
• NP_001336335.1:p.Thr11Asn
• NP_001336337.1:p.Thr11Asn
• NP_001336338.1:p.Thr11Asn
• NP_001336339.1:p.Thr11Asn
• NP_057643.1:p.Thr203Asn
• NC_000003.11:g.179593163G>T
• NM_016559.1:c.608C>A
• NR_146167.2:n.692C>A

This HGVS expression did not pass validation

Protein change:

T114N

Molecular consequence:

• NM_001256750.2:c.602C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256751.2:c.536C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256752.2:c.503C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256753.2:c.431C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256754.2:c.479C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256755.2:c.284C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256756.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349386.2:c.773C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349387.2:c.680C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349388.2:c.680C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349389.2:c.674C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349390.2:c.668C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349391.2:c.578C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349392.2:c.575C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349393.2:c.575C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349394.2:c.485C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349395.2:c.479C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349396.2:c.407C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349397.2:c.380C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349398.2:c.341C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349399.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349401.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349404.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349406.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349408.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349409.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349410.2:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016559.3:c.608C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146167.2:n.692C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]